Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Or5aq1b'

422543

Institutional Source

Beutler Lab

Gene Symbol

Or5aq1b

Ensembl Gene

ENSMUSG00000075163

Gene Name

olfactory receptor family 5 subfamily AQ member 1B

Synonyms

GA_x6K02T2Q125-48565383-48564445, Olfr1107, MOR172-2

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86901459-86902567 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86901836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 214 (V214A)

Ref Sequence

ENSEMBL: ENSMUSP00000150135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099865] [ENSMUST00000214049]

AlphaFold

A2AVB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099865
AA Change: V214A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: V214A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.9e-53	PFAM
Pfam:7tm_1	41	290	1.9e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214049
AA Change: V214A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cspg5	A	T	9: 110,075,698 (GRCm39)	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Park7	A	G	4: 150,992,880 (GRCm39)		probably benign	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,685,831 (GRCm39)	H720L	probably benign	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Ripply2	A	G	9: 86,901,779 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,808,466 (GRCm39)	L81P	probably damaging	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Tsga10	T	C	1: 37,802,392 (GRCm39)	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	probably benign	Het

Other mutations in Or5aq1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Or5aq1b	APN	2	86,901,563 (GRCm39)	missense	probably benign	0.00
IGL01521:Or5aq1b	APN	2	86,902,077 (GRCm39)	missense	probably benign	0.11
IGL03350:Or5aq1b	APN	2	86,901,904 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Or5aq1b	UTSW	2	86,902,046 (GRCm39)	missense	possibly damaging	0.94
R0801:Or5aq1b	UTSW	2	86,902,407 (GRCm39)	nonsense	probably null
R1383:Or5aq1b	UTSW	2	86,902,136 (GRCm39)	missense	probably damaging	1.00
R1577:Or5aq1b	UTSW	2	86,901,741 (GRCm39)	missense	probably benign	0.15
R1762:Or5aq1b	UTSW	2	86,902,265 (GRCm39)	missense	probably damaging	1.00
R2027:Or5aq1b	UTSW	2	86,901,897 (GRCm39)	missense	possibly damaging	0.85
R3850:Or5aq1b	UTSW	2	86,902,310 (GRCm39)	missense	possibly damaging	0.89
R5409:Or5aq1b	UTSW	2	86,902,214 (GRCm39)	missense	possibly damaging	0.64
R5451:Or5aq1b	UTSW	2	86,902,341 (GRCm39)	missense	probably damaging	1.00
R5735:Or5aq1b	UTSW	2	86,901,756 (GRCm39)	missense	probably damaging	1.00
R6091:Or5aq1b	UTSW	2	86,901,705 (GRCm39)	missense	probably benign	0.03
R6869:Or5aq1b	UTSW	2	86,902,017 (GRCm39)	missense	probably benign	0.11
R7080:Or5aq1b	UTSW	2	86,902,083 (GRCm39)	missense	probably damaging	1.00
R8130:Or5aq1b	UTSW	2	86,901,570 (GRCm39)	missense	probably benign	0.09
R8147:Or5aq1b	UTSW	2	86,902,017 (GRCm39)	missense	probably benign	0.11
R9087:Or5aq1b	UTSW	2	86,902,299 (GRCm39)	missense	probably damaging	1.00
R9619:Or5aq1b	UTSW	2	86,902,140 (GRCm39)	missense	possibly damaging	0.94
Z1177:Or5aq1b	UTSW	2	86,902,457 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5aq1b	UTSW	2	86,902,109 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GTTCCATGGAGTACTGAGAGC -3'
(R):5'- TATGACCCACAGAATCTGCAG -3'

Sequencing Primer
(F):5'- GCTGGGCTGGATATAACTAAATGTC -3'
(R):5'- GGGTGGCCTCATTAATTCCCTG -3'

Posted On

2016-08-04